A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6932



Internal ID15190246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:10623650..10655782hg38UCSC Ensembl
Outerchr20:10604298..10636430hg19UCSC Ensembl
Outerchr20:10552298..10584430hg18UCSC Ensembl
Outerchr20:10552298..10584430hg17UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg387306
hg197306
hg187306
hg177306
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3291
Supporting Variants
SamplesNA12156
Known GenesJAG1, MIR6870
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv6932
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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